A33V (p.Ala33Val) variant of ITGB4 (Integrin beta-4)
A33V (p.Ala33Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD rs1244895385
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available